ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2825314648
Gene: TMCC1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2278579
ClinVar RCV Id:
RCV004131440
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001017395.2:p.Arg647Pro
CA2609608
NM_001017395.5:c.1940G>C